A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney

Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran

“…In addition, the variants were not present in our homemade exome database and the public SNP databases, including dbSNP, ExAC, and GnomAD. Due to the proximity of the pseudogenes to the PKD1 gene, it has always been difficult to identify the pathogenic variants in PKD1 (11,12). Several assays indicated that WES is a proper technique that can be used in a relatively short time and at a low cost to identify single-gene disease and genetic heterogeneity complaints in patients with ADPKD, in comparison with standard diagnostics on the basis of Sanger sequencing and multiplex ligation-dependent probe amplification assays (13,14).…”

Linkage Analysis of Autosomal Dominant Polycystic Kidney Disease in Iranian Families through PKD1 and PKD2 DNA Microsatellite Markers

“…The percentage of non-autosomal dominant PKD patients is also less than 10% among different populations (3,4). Several studies from around the world report similar results as mentioned above; for example Mizoguchi et al in 21 Japanese ADPKD families, including 96 individuals and 57 affected members, reported that 17 families (81%) had linkage to PKD1, 2 families (10%); PKD2 and 2 families did not have linkage to either PKD1 or PKD2 (14).…”

“…The presence of the third gene related to ADPKD in some patients is unclear and does not show linkage to either the PKD1 or PKD2 genes (3,4). The mutations of PKD1 and PKD2 genes can produce identical renal and extrarenal manifestations.…”